High-Resolution Adaptive Optics Retinal Image Analysis at Early Stage Central Areolar Choroidal Dystrophy With
            <i>PRPH2</i>
            Mutation

Gocho, Kiyoko; Akeo, Keiichiro; Itoh, Naoko; Kameya, Shuhei; Hayashi, Takaaki; Katagiri, Satoshi; Gekka, Tamaki; Ohkuma, Yasuhiro; Tsuneoka, Hiroshi; Takahashi, Hiroshi

doi:10.3928/23258160-20161130-05

Cited by 23 publications

(13 citation statements)

References 34 publications

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“…AOSLO imaging in p.(Arg172Trp)-associated CORD revealed increased cone spacing throughout the macula with corresponding loss of outer retinal structures on OCT 63. However, intrafamilial analysis of p.(Arg172Gln)-associated disease has shown marked variability, similar to that seen in GUCA1A -associated CORD; one family member had a completely normal photoreceptor mosaic, whereas two others had variable parafoveal cone loss 64…”

Section: Specific Examples Of Cod and Cordmentioning

confidence: 78%

Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy

et al. 2019

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Progressive cone and cone-rod dystrophies are a clinically and genetically heterogeneous group of inherited retinal diseases characterised by cone photoreceptor degeneration, which may be followed by subsequent rod photoreceptor loss. These disorders typically present with progressive loss of central vision, colour vision disturbance and photophobia. Considerable progress has been made in elucidating the molecular genetics and genotype–phenotype correlations associated with these dystrophies, with mutations in at least 30 genes implicated in this group of disorders. We discuss the genetics, and clinical, psychophysical, electrophysiological and retinal imaging characteristics of cone and cone-rod dystrophies, focusing particularly on four of the most common disease-associated genes: GUCA1A, PRPH2, ABCA4 and RPGR. Additionally, we briefly review the current management of these disorders and the prospects for novel therapies.

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Section: Specific Examples Of Cod and Cordmentioning

confidence: 78%

Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy

et al. 2019

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“…Further complications might arise from the fact that the functional role of Prph2 seems to vary in rods and cones. In addition to that, secondary effects of PRPH2 mutations on the RPE and the choroid could be observed [29][30][31]. A high variability in the clinical phenotypes displayed by patients, even when carrying the same mutation, represents another challenge, which has to be overcome in order to treat PRPH2 related diseases.…”

Section: Gene Therapy Of Prph2 Mutationsmentioning

confidence: 99%

“…The associated phenotypes show a high degree of variability of onset and phenotype even between patients carrying the same mutation. In addition to the degeneration of the retina, some Prph2 related diseases were found to cause secondary effects on the retinal pigment epithelium (RPE) or the choroid [29][30][31].…”

Section: Introductionmentioning

confidence: 99%

The Interplay between Peripherin 2 Complex Formation and Degenerative Retinal Diseases

Tebbe

Kakakhel

Makia

et al. 2020

Cells

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Peripherin 2 (Prph2) is a photoreceptor-specific tetraspanin protein present in the outer segment (OS) rims of rod and cone photoreceptors. It shares many common features with other tetraspanins, including a large intradiscal loop which contains several cysteines. This loop enables Prph2 to associate with itself to form homo-oligomers or with its homologue, rod outer segment membrane protein 1 (Rom1) to form hetero-tetramers and hetero-octamers. Mutations in PRPH2 cause a multitude of retinal diseases including autosomal dominant retinitis pigmentosa (RP) or cone dominant macular dystrophies. The importance of Prph2 for photoreceptor development, maintenance and function is underscored by the fact that its absence results in a failure to initialize OS formation in rods and formation of severely disorganized OS membranous structures in cones. Although the exact role of Rom1 has not been well studied, it has been concluded that it is not necessary for disc morphogenesis but is required for fine tuning OS disc size and structure. Pathogenic mutations in PRPH2 often result in complex and multifactorial phenotypes, involving not just photoreceptors, as has historically been reasoned, but also secondary effects on the retinal pigment epithelium (RPE) and retinal/choroidal vasculature. The ability of Prph2 to form complexes was identified as a key requirement for the development and maintenance of OS structure and function. Studies using mouse models of pathogenic Prph2 mutations established a connection between changes in complex formation and disease phenotypes. Although progress has been made in the development of therapeutic approaches for retinal diseases in general, the highly complex interplay of functions mediated by Prph2 and the precise regulation of these complexes made it difficult, thus far, to develop a suitable Prph2-specific therapy. Here we describe the latest results obtained in Prph2-associated research and how mouse models provided new insights into the pathogenesis of its related diseases. Furthermore, we give an overview on the current status of the development of therapeutic solutions.

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“…The AO images from each retina were stitched together with an automated image editing software (ImageJ, National Institute of Health, Bethesda, MD). We used a reported protocol of the peak density method based on a method described by Feng et al (24,25).…”

Section: Adaptive Optics (Ao) Image Analysesmentioning

confidence: 99%

CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family

Kubota

Gocho

Kikuchi

et al. 2018

Ophthalmic Genetics

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The variants of CEP250 are both null variants and according to American College of Medical Genetics and Genomics (ACMG) standards and guideline, these variants are classified into the very strong category (PVS1). The criteria for both alleles will be pathogenic. Our data indicate that mutations of CEP250 can cause mild CRD and SNHL in Japanese patients. Because the ophthalmological phenotypes were very mild, high-resolution retinal imaging analysis, such as AO, will be helpful in diagnosing CEP250-associated disease.

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High-Resolution Adaptive Optics Retinal Image Analysis at Early Stage Central Areolar Choroidal Dystrophy With PRPH2 Mutation

Abstract: The results indicate that the parafoveal cone photoreceptors can be affected even at the early stage of CACD. [Ophthalmic Surg Lasers Imaging Retina. 2016;47:1115-1126.].

Cited by 23 publications

References 34 publications

Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy

Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy

The Interplay between Peripherin 2 Complex Formation and Degenerative Retinal Diseases

CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family

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